Gene
nphs1
- ID
- ZDB-GENE-051102-1
- Name
- NPHS1 adhesion molecule, nephrin
- Symbol
- nphs1 Nomenclature History
- Previous Names
-
- nphs1l
- nephrin (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have cell adhesion molecule binding activity. Involved in animal organ development; glial cell development; and glomerular filtration. Predicted to localize to cell-cell junction and integral component of plasma membrane. Is expressed in renal system. Used to study nephrotic syndrome and proteinuria. Human ortholog(s) of this gene implicated in nephrotic syndrome type 1. Orthologous to human NPHS1 (NPHS1 adhesion molecule, nephrin).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 65 figures from 43 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 10 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
nephrotic syndrome type 1 | Alliance | Nephrotic syndrome, type 1 | 256300 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR003598 | Immunoglobulin subtype 2 |
Domain | IPR003599 | Immunoglobulin domain subtype |
Domain | IPR003961 | Fibronectin type III |
Domain | IPR007110 | Immunoglobulin-like domain |
Domain | IPR013098 | Immunoglobulin I-set |
Domain | IPR013151 | Immunoglobulin-like beta-sandwich domain |
Domain | IPR013162 | CD80-like, immunoglobulin C2-set |
Family | IPR051275 | Cellular adhesion and signaling domain-containing protein |
Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
Protein | Length | CD80-like, immunoglobulin C2-set | Cellular adhesion and signaling domain-containing protein | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like beta-sandwich domain | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9QPY5
|
1242 | |||||||||||
UniProtKB:Q1KMS5
|
1242 |
Interactions and Pathways
No data available
Plasmids
No data available